E38A (p.Glu38Ala) variant of TGFB2 (P61812)
E38A (p.Glu38Ala) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E38A (p.Glu38Ala) variant details
- p.Glu38Ala
- gnomAD 1-218346814-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available